Krysta L. Engel

scExploreR provides a user-friendly platform for non-programmers to analyze multimodal single-cell data with customizable plots and seamless handling of different input formats.

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.

This study introduces Halo-seq, a method for quantifying subcellular RNA populations, and finds that AU-rich elements are enriched in the nucleus and their export depends on HuR.

LABRAT quantifies alternative polyadenylation (APA) and identifies its associations with RNA localization, transcription speed, cancer survival, and RNA-binding protein regulation.

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.